On Jul. 19, 2023, a team of scientists from the Translational Genomics Research Institute (TGen), part of the City of Hope, and Barrow Neurological Institute have detected these cryptic exons in specific brain cells from ALS and FTD patients carrying a mutation in the C9ORF72 gene.

Published in Acta Neuropathologica, this was the first time that these disease-linked cryptic exons have been identified in single cells. The findings could help researchers learn more about exactly how cryptic exons affect the cellsﾒ function in ALS and FTD, and about which cells are most vulnerable to TDP-43 dysfunction.